Article

Novel missense variants associated with GNE myopathy

2025-07-21

Abstract excerpt

GNE myopathy is a rare autosomal recessive skeletal muscle disorder characterized by progressive distal muscle weakness, typically starting in the lower legs and gradually involving proximal muscle groups. It is an autosomal recessive disease, caused by biallelic variants in GNE. To date, over 350 causative GNE variants have been reported, however, establishing genotype-phenotype correlation remains difficult due...

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Literature Corpus work: 6b71be63-1d35-55ea-8846-efc0f2fbb30d
DOI: 10.1101/2025.07.18.25331694

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